De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5′ end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations

Yue, Y.; Farcas, Ruxandra; Thiel, Gundula; Bommer, Christiane; Grossmann, Bärbel; Galetzka, Danuta; Kelbova, Christina; Küpferling, Peter; Daser, Angelika; Zechner, Ulrich; Haaf, Thomas

doi:10.1038/sj.ejhg.5201795

Cited by 14 publications

(6 citation statements)

References 56 publications

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“…Skeletal changes may progress during growth. Interestingly, translocation breakpoint near HOXB and HOXD with positional effect caused thoracic deformities and digital abnormalities [Spitz et al, 2002; Dlugaszewska et al, 2006; Yue et al, 2007]. We tentatively assume that skeletal anomalies in our patient are associated with haploinsufficiency of the HOXC gene cluster.…”

Section: Discussionmentioning

confidence: 59%

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Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay

Okamoto

Tamura

Nishimura

et al. 2011

American J of Med Genetics Pt A

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We report on a patient with a submicroscopic deletion of 12q13 detected by array-CGH and confirmed by FISH. He was haploinsufficient for the HOXC gene cluster and some other neighboring genes. HOX genes have an important role in the initial formation of the body. The patient showed characteristic features including severe kyphoscoliosis, digital abnormalities, cardiac anomaly, expressive language, and global developmental delay. Radiologic features of the fingers had some similarities with those for multiple synostosis syndrome. No human genetic disorders due to HOXC abnormalities are yet known. We tentatively assume that his skeletal anomalies are associated with haploinsufficiency of the HOXC gene cluster. Further studies are necessary to determine the clinical importance of haploinsufficiency of the HOXC gene cluster.

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Section: Discussionmentioning

confidence: 59%

“…They suggested that the three rearrangements disturb normal HOXD gene regulation by position effects. Yue et al [2007] reported a boy with severe intellectual disability, funnel chest, bell‐shaped thorax, and hexadactyly of both feet. The patient had a balanced de novo t(12;17)(p13.3;q21.3) translocation.…”

Section: Introductionmentioning

confidence: 99%

Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay

Okamoto

Tamura

Nishimura

et al. 2011

American J of Med Genetics Pt A

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“…The coding sequence of tubulin tyrosine ligase-like family member 6 (TTLL6) locates in the chromosomal locus17q21.32. It has been reported the 3' UTR of TTLL6 lies within the distal breakpoint region of De novo t(12;17) (p13.3; q21.3) translocation in a patient with developmental delay and skeletal malformations 17 . However, whether alteration of TTLL6 expression directly caused these syndromes is still unknown.…”

Section: Discussionmentioning

confidence: 99%

Effect of TTLL6 expression on CDDP sensitivity of EC109/CDDP cells in hypoxia/acidosis microenvironment

Yang¹,

Wu²,

Li³

et al. 2020

J. Cancer

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Multidrug resistance is a major obstacle to the effective treatment of esophageal carcinoma. It occurs more readily in hypoxia and acidosis microenvironment. TTLL6 is one of Tubulin tyrosine ligase-like family members. In this study, the effect of TTLL6 on the regulation of cisplatin (CDDP) sensitivity was evaluated in CDDP-resistant esophageal carcinoma (EC) cells both in vitro and in vivo . In hypoxia/acidosis condition, overexpression of TTLL6 in EC109/CDDP cells significantly lowered the IC 50 of CDDP and increased the CDDP-induced apoptosis; while knockdown of TTLL6 expression in EC109/CDDP cells exhibited the opposite effects. Further study showed that, mechanistically, TTLL6 was inversely correlated with ERBB2 and TOPOIIA, and positively correlated with apoptosis-associated factor Caspase 9. Furthermore, animal model confirmed that TTLL6 negatively regulated the growth of xenograft tumor after chemotherapy. Alternated expression of TTLL6 also regulated the expression of ERBB2, TOPOIIA and Caspase 9 in EC109/CDDP cells in vivo . In conclusion, our results suggest that TTLL6 could reverse the drug resistant of EC109/CDDP cells, it might provide a potential treatment strategy for the clinical reversing the chemotherapy resistance.

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“…Of note, one case with Klippel-Feil anomaly had a translocation involving chromosome band 17q23 (26), which is close to the human hemp orthologous locus at 17q21.3. In addition, several patients with unrelated skeletal abnormalities were shown to bear chromosomal aberrations involving 17q21.3 (28)(29)(30). Therefore, it would be intriguing to investigate whether human hemp expression is affected in patients with Klippel-Feil anomaly and patients with skeletal abnormalities carrying chromosomal aberrations involving 17q21.3.…”

Section: Discussionmentioning

confidence: 99%

Hemp, an mbt domain-containing protein, plays essential roles in hematopoietic stem cell function and skeletal formation

Honda

Takubo

Oda

et al. 2011

Proc. Natl. Acad. Sci. U.S.A.

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To clarify the molecular pathways governing hematopoietic stem cell (HSC) development, we screened a fetal liver (FL) HSC cDNA library and identified a unique gene, hematopoietic expressed mammalian polycomb ( hemp ), encoding a protein with a zinc-finger domain and four malignant brain tumor (mbt) repeats. To investigate its biological role, we generated mice lacking Hemp ( hemp −/− ). Hemp −/− mice exhibited a variety of skeletal malformations and died soon after birth. In the FL, hemp was preferentially expressed in the HSC and early progenitor cell fractions, and analyses of fetal hematopoiesis revealed that the number of FL mononuclear cells, including HSCs, was reduced markedly in hemp −/− embryos, especially during early development. In addition, colony-forming and competitive repopulation assays demonstrated that the proliferative and reconstitution abilities of hemp −/− FL HSCs were significantly impaired. Microarray analysis revealed alterations in the expression levels of several genes implicated in hematopoietic development and differentiation in hemp −/− FL HSCs. These results demonstrate that Hemp, an mbt-containing protein, plays essential roles in HSC function and skeletal formation. It is also hypothesized that Hemp might be involved in certain congenital diseases, such as Klippel-Feil anomaly.

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De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5′ end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations

Cited by 14 publications

References 56 publications

Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay

Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay

Effect of TTLL6 expression on CDDP sensitivity of EC109/CDDP cells in hypoxia/acidosis microenvironment

Hemp, an mbt domain-containing protein, plays essential roles in hematopoietic stem cell function and skeletal formation

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